Anyone living with chronic obstructive pulmonary disease (COPD) has to find ways to manage and ease flares, but genetic COPD — alpha-1 antitrypsin (alpha-1) deficiency — comes with a few more roadblocks.
Genetic COPD begins with a deficiency of the alpha-1 protein, which is released by the liver, enters the blood, and is then transported to the lungs. In people with the deficiency, low levels of the protein leaves the lungs susceptible to being damaged by smoke and other environmental pollutants, which can lead to the development of COPD.
Diagnosing Genetic COPD
Genetic COPD is rare in terms of overall numbers, but it’s one of the most common genetic conditions in the United States — and the numbers may not tell the whole story. “Immediate family members may have a deficiency of a certain protein that’s been passed on,” says Luis Javier Peña-Hernández, MD, a pulmonary health and sleep disorders specialist in Palm Beach County, Florida.
Although some people get tested for the deficiency if a family member has COPD, many don’t. “A lot of clinicians (and patients) may associate symptoms with lifestyle choices — like, for example, smoking for lung problems or consuming alcohol for liver disease,” says Mike Hess, MPH, a member of the American Association for Respiratory Care, respiratory therapist and pulmonary function technologist.
Hess adds that only one in 10 people are properly diagnosed, and the average delay between symptom onset and diagnosis is about eight years. Symptoms include shortness of breath, low tolerance for exercise, recurring chest colds or pneumonia, wheezing, year-round allergies, and chronic cough, according to the Alpha-1 Foundation.
Talk with your pediatrician about testing your children if anyone in your family has genetic COPD. If you’re older and suspect you have it, ask your doctor about a screening for yourself.
What to Do After Finding Out You Have Genetic COPD
Of course, learning you have the genetic variation of COPD raises numerous questions, including whether you should change anything about how you manage your COPD.
Before we get into the differences between COPD and genetic COPD, it’s important to make sure you are incorporating good general management tactics into your daily routine. If you have yet to make strides in managing your COPD, these three lifestyle habits are a good place to start.
- Get regular exercise. “Exercise, namely aerobic, will help you recruit and use areas of your lungs that are often underutilized,” Dr. Peña-Hernández says. Because chronic lung conditions make working out trickier than usual, work with a pulmonary rehabilitation expert, who can help create a custom exercise plan for you.
- Manage stress. Not letting stress get the best of you is especially important when dealing with the challenges of a chronic condition. How do you get stress relief? Hess suggests talking with a counselor, finding a support group, staying active, taking up a hobby, and engaging with friends and family.
- Do breathing exercises. Regular breath work can help ease stress and perhaps even aid anxiety, depression, or insomnia caused by your COPD. Try, for instance, pursed-lip breathing, where you take a deep breath in through your mouth or nose, purse your lips together like you’re about to whistle, and slowly exhale, Hess says. Or try low-impact aerobic activity that incorporates breath work, such as yoga or meditation.
There are some additional measures you’ll need to take if you have genetic COPD. Try these three:
- Steer clear of smoke. Because smoking speeds up lung damage, it’s important for anybody with COPD to do this, but it’s even more crucial if you have the alpha-1 deficiency. “Particles and fumes in cigarette smoke, not to mention the heat you inhale while actively smoking, cause structural changes in many of the cells in the airways, so they can make relatively mild cases of [genetic COPD] worse or cause additional symptoms,” Hess says. It’s also important to avoid vaping.
- Consider augmentation therapy, if you qualify. Replacing alpha-1 with a supplemental enzyme is the only way to prevent the progression of genetic COPD, Peña-Hernández says. That’s what augmentation therapy does, and it’s delivered via a weekly infusion of supplemental alpha-1, often done at home. To be considered for this therapy, you must be a nonsmoker, have an enzyme level below a certain threshold, and demonstrate progressively diminishing lung function, he adds. This therapy only applies to genetic COPD and won’t help someone whose condition is caused strictly by environmental factors.
- Watch your diet. Regardless of what type of COPD you have, you should follow a balanced diet and try to maintain a healthy weight, Peña-Hernández says. While there aren’t specific dietary requirements for people with genetic COPD, anyone going through augmentation therapy could experience fluid retention. To counter this, eat a low-sodium diet and maintain healthy blood pressure levels, he adds.